Gaucher’s Disease


Enzyme Replacement Therapy Disease Gauche Lysosomal Storage Disease Gauche Cell Lysosomal Disorder 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


  1. Barneveld RA, Keijzer W, Tegelaers FP, Ginns EI, Geurts van Kessel A, Brady RO, Barranger JA, Tager JM, Galjaard H, Westerveld A, and Reuser AJ (1983) Assignment of the gene coding for human beta-glucocerebrosidase to the region q21–q31 of chromosome 1 using monoclonal antibodies. Hum Genet 64: 227CrossRefPubMedGoogle Scholar
  2. Beutler E, and Grabowski G (2001) Gaucher’s disease. In: The metabolic and molecular bases of inherited diseases (Scriver C, Beaudet A, Valle D, and Sly WS, eds). New York: McGraw-Hill, pp 3635Google Scholar
  3. Brady R, Kanfer J, and Shapiro D (1965) Metabolism of glucocerebrosides II. Evidence of an enzymatic deficiency in Gaucher’s disease. Biochem Biophys Res Commun 18: 221CrossRefPubMedGoogle Scholar
  4. Desnick RJ, and Schuchman EH (2002) Enzyme replacement and enhancement therapies: Lessons from lysosomal disorders. Nat Rev Genet 3: 954CrossRefPubMedGoogle Scholar
  5. Devine EA, Smith M, Arredondo-Vega FX, Shafit-Zagardo B, and Desnick RJ (1982) Regional assignment of the structural gene for human acid beta-glucosidase to q42 leads to qter on chromosome 1. Cytogenet Cell Genet 33: 340PubMedGoogle Scholar
  6. Dickersin G (2000) Diagnostic electron microscopy. A text/atlas. New York: SpringerGoogle Scholar
  7. Ginns EI, Choudary PV, Tsuji S, Martin B, Stubblefield B, Sawyer J, Hozier J, and Barranger JA (1985) Gene mapping and leader polypeptide sequence of human glucocerebrosidase: implications for Gaucher disease. Proc Natl Acad Sci USA 82: 7101PubMedGoogle Scholar
  8. Jordan S (1964) Electron microscopy of Gaucher cells. Exp Mol Pathol 3: 76CrossRefGoogle Scholar

Copyright information

© Springer-Verlag/Wien 2005

Personalised recommendations